Homo sapiens Gene: SLC35D2
Summary
InnateDB Gene IDBG-77339.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SLC35D2
Gene Name solute carrier family 35, member D2
Synonyms hfrc; HFRC1; SQV7L; UGTrel8
Species Homo sapiens
Ensembl Gene ENSG00000130958
Encoded Proteins
solute carrier family 35, member D2
solute carrier family 35, member D2
solute carrier family 35, member D2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:96320706-96383710
Strand Reverse strand
Band q22.32
Transcripts
ENST00000253270 ENSP00000253270
ENST00000375259 ENSP00000364408
ENST00000375257 ENSP00000364406
ENST00000490599
ENST00000482643
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005338 nucleotide-sugar transmembrane transporter activity
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006024 glycosaminoglycan biosynthetic process
GO:0008150 biological_process
GO:0008643 carbohydrate transport
GO:0018146 keratan sulfate biosynthetic process
GO:0030203 glycosaminoglycan metabolic process
GO:0042339 keratan sulfate metabolic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
GO:1901264 carbohydrate derivative transport
GO:1901679 nucleotide transmembrane transport
Cellular Component
GO:0000139 Golgi membrane
GO:0005575 cellular_component
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Transport of nucleotide sugars pathway
Transport of vitamins, nucleosides, and related molecules pathway
Keratan sulfate biosynthesis pathway
HS-GAG biosynthesis pathway
Transmembrane transport of small molecules pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
Keratan sulfate/keratin metabolism pathway
MPS VI - Maroteaux-Lamy syndrome pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
Heparan sulfate/heparin (HS-GAG) metabolism pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
MPS IIIC - Sanfilippo syndrome C pathway
SLC-mediated transmembrane transport pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL Q5VZJ2
UniProt Splice Variant
Entrez Gene 11046
UniGene Hs.619530
RefSeq NM_001286990 NM_007001 XM_005251678
HUGO HGNC:20799
OMIM 609182
CCDS CCDS6717 CCDS69625
HPRD 16456
IMGT
EMBL AL160269
GenPept
RNA Seq Atlas 11046